Angiocentric glioma with MYB-QKI fusion located in the brainstem, rather than cerebral cortex

Excerpt

Angiocentric glioma is defined in the 2016 WHO Classification as “an epilepsy-associated, stable or slow-growing cerebral tumor primarily affecting children and young adults; histologically characterized by an angiocentric pattern of growth, monomorphous bipolar cells, and features of ependymal differentiation” [5]. Since its initial description by Wang et al. [8], fewer than 100 cases have been reported, nearly all of which were epilepsy-associated tumors located in the cerebral cortex [1, 8]. Recently, an in-frame MYB-QKI gene fusion was identified as the defining genetic alteration in the majority of tumors pathologically classified as angiocentric gliomas [2, 6]. To date, only rare examples of angiocentric glioma-like tumors located outside of the cerebral hemispheres have been reported, but none have been genetically characterized [3, 7]. Here we report the case of a young child with 6th cranial nerve palsy due to an angiocentric glioma with MYB-QKI fusion centered in the pons; as such, the definition of this tumor type should not be restricted to a location in the cerebral cortex or to seizures as the clinical presentation. …